Pulmonary Arterial Hypertension KnowledgeBase (bioinfom_tsdb)
bioinfom_tsdb
Pulmonary Arterial Hypertension KnowledgeBase
General information | Literature | Expression | Regulation | Variant | Interaction

Basic Information

Gene ID

6477

Name

SIAH1

Synonymous

siah E3 ubiquitin protein ligase 1;SIAH1;siah E3 ubiquitin protein ligase 1

Definition

E3 ubiquitin-protein ligase SIAH1|seven in absentia homolog 1|siah-1a

Position

16q12.1

Gene Type

protein-coding

Mutation summary:

Mutations in domains
Mutational pattern in 17 major cancer types
LoF vs missense mutations
All the copy number variations from COSMIC database V72
All the mutations from COSMIC database V72

Mutation summary in protein domains

Top

We used uniprot protein structure data from ensemble BioMart database. The size of circle shows the relative mutation number.

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

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The non-synonymous mutational pattern in 17 major cancer types.
The synonymous mutational pattern in 17 major cancer types.

Loss of Function mutations compare to missense mutations

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Loss of Function mutations compare to missense mutation.
The ratio of the loss-of-function mutations over missense mutations is 0.06.

The copy number variations for various cancers

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The copy number variations in 17 major cancer groups: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; NS, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

COSMIC somatic mutation [Top]

Mutation (CDS; AA; Chr)

Site

Histology

Mutation Type

c.714G>A; p.A238A; 16:48361715-48361715

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.231C>T; p.G77G; 16:48362198-48362198

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.231C>T; p.G77G; 16:48362198-48362198

 large_intestinecarcinoma; adenocarcinomaSubstitution - coding silent

c.718C>T; p.P240S; 16:48361711-48361711

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.361T>A; p.C121S; 16:48362068-48362068

 skinmalignant_melanomaSubstitution - Missense

c.242C>A; p.S81Y; 16:48362187-48362187

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.370A>C; p.R124R; 16:48362059-48362059

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.600T>C; p.D200D; 16:48361829-48361829

 large_intestine; coloncarcinoma; adenocarcinomaSubstitution - coding silent

c.451C>G; p.Q151E; 16:48361978-48361978

 lungcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.741T>G; p.I247M; 16:48361688-48361688

 livercarcinoma; hepatocellular_carcinomaSubstitution - Missense

c.226C>T; p.R76W; 16:48362203-48362203

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.713C>T; p.A238V; 16:48361716-48361716

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.443T>A; p.L148Q; 16:48361986-48361986

 large_intestine; caecumcarcinoma; adenocarcinomaSubstitution - Missense

c.9T>C; p.R3R; 16:48362420-48362420

 stomachcarcinoma; adenocarcinomaSubstitution - coding silent

c.693G>A; p.R231R; 16:48361736-48361736

 skin; head_neckcarcinoma; squamous_cell_carcinomaSubstitution - coding silent

c.494T>C; p.F165S; 16:48361935-48361935

 autonomic_ganglianeuroblastomaSubstitution - Missense

c.39C>G; p.T13T; 16:48362390-48362390

 ovarycarcinoma; serous_carcinomaSubstitution - coding silent

c.10C>T; p.Q4*; 16:48362419-48362419

 breastcarcinomaSubstitution - Nonsense

c.472C>A; p.L158I; 16:48361957-48361957

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.221C>T; p.T74I; 16:48362208-48362208

 oesophaguscarcinoma; adenocarcinomaSubstitution - Missense

c.664G>A; p.A222T; 16:48361765-48361765

 stomachcarcinoma; adenocarcinomaSubstitution - Missense

c.85A>G; p.T29A; 16:48362344-48362344

 breastcarcinomaSubstitution - Missense

c.435G>A; p.M145I; 16:48361994-48361994

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.570G>A; p.M190I; 16:48361859-48361859

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

c.42G>A; p.S14S; 16:48362387-48362387

 large_intestine; rectumcarcinoma; adenocarcinomaSubstitution - coding silent

c.690T>C; p.H230H; 16:48361739-48361739

 thyroidcarcinomaSubstitution - coding silent

c.571T>G; p.L191V; 16:48361858-48361858

 biliary_tract; gallbladdercarcinoma; adenocarcinomaSubstitution - Missense

c.722G>A; p.R241Q; 16:48361707-48361707

 breastcarcinomaSubstitution - Missense

c.514C>G; p.L172V; 16:48361915-48361915

 oesophagus; lower_thirdcarcinoma; squamous_cell_carcinomaSubstitution - Missense

c.282A>T; p.V94V; 16:48362147-48362147

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.282A>T; p.V94V; 16:48362147-48362147

 kidneycarcinoma; clear_cell_renal_cell_carcinomaSubstitution - coding silent

c.328C>A; p.P110T; 16:48362101-48362101

 endometriumcarcinoma; endometrioid_carcinomaSubstitution - Missense

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